Variant report

Variant	nsv1049941
Chromosome Location	chr12:84538655-84680213
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:280)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:280 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr12:84666195-84666238	K562	blood:	n/a	n/a
2	CEBPB	chr12:84566633-84566888	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr12:84575615-84575954	HepG2	liver:	n/a	chr12:84575790-84575801
4	CEBPB	chr12:84575641-84575858	A549	lung:	n/a	chr12:84575790-84575801
5	CEBPB	chr12:84566641-84566838	K562	blood:	n/a	n/a
6	CEBPB	chr12:84566658-84566951	HepG2	liver:	n/a	n/a
7	CEBPB	chr12:84566621-84566945	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr12:84612277-84612494	MCF-7	breast:	n/a	chr12:84612397-84612410
9	CEBPB	chr12:84575678-84575942	H1-hESC	embryonic stem cell:	n/a	chr12:84575790-84575801
10	CEBPB	chr12:84612283-84612492	A549	lung:	n/a	chr12:84612397-84612410
11	CEBPB	chr12:84575648-84575974	IMR90	lung:	n/a	chr12:84575790-84575801
12	CEBPB	chr12:84566615-84566974	ECC-1	luminal epithelium:	n/a	n/a
13	CTCF	chr12:84566942-84567001	MCF-7	breast:	n/a	n/a
14	CTCF	chr12:84634320-84634470	AG04450	lung:	n/a	n/a
15	CTCF	chr12:84624160-84624310	HEK293	kidney:	n/a	n/a
16	CTCF	chr12:84548500-84548598	GM13976	blood:	n/a	n/a
17	CTCF	chr12:84624160-84624310	NHEK	skin:	n/a	n/a
18	CTCF	chr12:84555180-84555330	HCPEpiC	choroid plexus:	n/a	n/a
19	CTCF	chr12:84623960-84624110	BE2_C	brain:	n/a	n/a
20	CTCF	chr12:84634420-84634570	HCPEpiC	choroid plexus:	n/a	n/a
21	CTCF	chr12:84624200-84624350	HRPEpiC	eye:	n/a	n/a
22	CTCF	chr12:84555180-84555330	AG10803	skin:	n/a	n/a
23	CTCF	chr12:84567817-84567880	Fibrobl	skin:	n/a	n/a
24	CTCF	chr12:84555260-84555410	AG09319	gingival:	n/a	n/a
25	CTCF	chr12:84555220-84555370	AG09319	gingival:	n/a	n/a
26	CTCF	chr12:84566972-84567047	MCF-7	breast:	n/a	n/a
27	CTCF	chr12:84624180-84624330	HepG2	liver:	n/a	n/a
28	CTCF	chr12:84603895-84603920	MCF-7	breast:	n/a	n/a
29	CTCF	chr12:84574150-84574183	Lung_OC	lung:	n/a	n/a
30	CTCF	chr12:84634360-84634510	NHDF-neo	bronchial:	n/a	n/a
31	CTCF	chr12:84634200-84634350	AG04450	lung:	n/a	n/a
32	CTCF	chr12:84665861-84665952	LNCaP	prostate:	n/a	n/a
33	CTCF	chr12:84673641-84673724	GM13976	blood:	n/a	n/a
34	CTCF	chr12:84634360-84634510	BJ	skin:	n/a	n/a
35	E2F4	chr12:84551976-84552117	MCF10A-Er-Src	breast:	n/a	n/a
36	E2F4	chr12:84583913-84583956	MCF10A-Er-Src	breast:	n/a	n/a
37	E2F4	chr12:84571702-84571850	MCF10A-Er-Src	breast:	n/a	n/a
38	E2F4	chr12:84553066-84553293	MCF10A-Er-Src	breast:	n/a	n/a
39	E2F4	chr12:84638352-84638508	MCF10A-Er-Src	breast:	n/a	n/a
40	E2F4	chr12:84639403-84639705	MCF10A-Er-Src	breast:	n/a	n/a
41	E2F4	chr12:84678379-84678757	MCF10A-Er-Src	breast:	n/a	n/a
42	EBF1	chr12:84625003-84625201	GM12878	blood:	n/a	chr12:84625120-84625131
43	EGR1	chr12:84667641-84667740	GM12878	blood:	n/a	n/a
44	EP300	chr12:84561788-84562273	SK-N-SH	brain:	n/a	chr12:84562212-84562226
45	EP300	chr12:84579835-84580754	SK-N-SH	brain:	n/a	n/a
46	EP300	chr12:84560722-84560953	SK-N-SH_RA	brain:	n/a	n/a
47	EP300	chr12:84669800-84670458	SK-N-SH_RA	brain:	n/a	n/a
48	EP300	chr12:84584808-84585103	SK-N-SH_RA	brain:	n/a	n/a
49	EP300	chr12:84669804-84670621	SK-N-SH	brain:	n/a	n/a
50	EP300	chr12:84560383-84561002	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:83366836..83369224-chr12:84561366..84563438,2	MCF-7	breast:
2	chr12:84600531..84602051-chr6:31495165..31496871,2	K562	blood:
3	chr12:84615761..84617587-chr14:52985387..52988384,2	MCF-7	breast:
4	chr12:84611922..84614915-chr12:84630882..84632480,2	MCF-7	breast:
5	chr12:84596837..84598758-chr12:84604233..84606547,2	MCF-7	breast:
6	chr12:84592646..84594505-chr12:84594640..84596287,2	MCF-7	breast:
7	chr12:84596837..84598758-chr12:84604233..84606547,2	MCF-7	breast:
8	chr12:84611922..84614915-chr12:84630882..84632480,2	MCF-7	breast:
9	chr12:84592646..84594505-chr12:84594640..84596287,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRIQ1-2	chr12:84678170-84678273	ENSG00000257729
2	lnc-LRRIQ1-2	chr12:84665119-84665185	ENSG00000257729

No data

Variant related genes	Relation type
ENSG00000221148	TF binding region
ENSG00000257729	TF binding region
ENSG00000204511	chromatin interactions
ENSG00000225499	chromatin interactions

Extended variants
information (count: 1524 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1524 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143408112	chr12:84543848-84543849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529582662	chr12:84543887-84543888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570032422	chr12:84543903-84543904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147178529	chr12:84543913-84543914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76073129	chr12:84543918-84543919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs36146804	chr12:84543951-84543952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184036885	chr12:84543970-84543971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200771918	chr12:84543987-84543988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534005077	chr12:84543989-84543990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188619359	chr12:84543991-84543992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139503777	chr12:84543995-84543996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538148956	chr12:84543996-84543997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181388580	chr12:84543999-84544000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369966132	chr12:84544012-84544013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540684300	chr12:84544030-84544031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548298082	chr12:84544071-84544072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560433671	chr12:84544081-84544082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556135394	chr12:84544086-84544087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373821646	chr12:84544102-84544103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149728159	chr12:84544111-84544112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545780466	chr12:84544165-84544166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557859790	chr12:84544238-84544239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572999274	chr12:84544284-84544285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529316735	chr12:84544285-84544286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186072536	chr12:84544303-84544304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561955915	chr12:84544326-84544327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144533388	chr12:84544382-84544383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544911991	chr12:84544412-84544413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563005874	chr12:84544423-84544424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189207269	chr12:84544446-84544447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551373402	chr12:84544480-84544481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182205911	chr12:84544498-84544499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs6539818	chr12:84544531-84544532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186351453	chr12:84544561-84544562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549607686	chr12:84544562-84544563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs148482786	chr12:84544567-84544568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570668667	chr12:84544570-84544571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550717892	chr12:84544578-84544579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541840186	chr12:84549206-84549207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557454333	chr12:84549214-84549215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192511271	chr12:84549226-84549227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183540782	chr12:84549241-84549242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs376850415	chr12:84549247-84549248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564344416	chr12:84549248-84549249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528636498	chr12:84549250-84549251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373444292	chr12:84549261-84549262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs207473190	chr12:84549268-84549269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112614880	chr12:84549281-84549282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562232670	chr12:84549292-84549293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142848657	chr12:84549312-84549313	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:84543800-84544200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr12:84543800-84544200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:84543800-84544600	Enhancers	NHEK	skin
4	chr12:84549200-84549400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:84549400-84550400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:84549600-84551000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:84550400-84550600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:84551000-84552600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:84552600-84553400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:84559600-84560200	Active TSS	Placenta Amnion	Placenta Amnion
11	chr12:84559600-84560400	Enhancers	A549	lung
12	chr12:84560200-84561800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:84560600-84561600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:84566800-84567000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:84566800-84567000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:84566800-84567200	Enhancers	HMEC	breast
17	chr12:84567000-84569800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:84577000-84577200	Enhancers	Fetal Heart	heart
19	chr12:84577000-84578000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr12:84577000-84578000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:84577000-84578000	Enhancers	NHEK	skin
22	chr12:84577000-84578200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:84577200-84578000	Flanking Active TSS	Fetal Heart	heart
24	chr12:84578000-84579000	Active TSS	Fetal Heart	heart
25	chr12:84578000-84585800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:84585200-84586400	Enhancers	HMEC	breast
27	chr12:84585600-84586400	Enhancers	NHEK	skin
28	chr12:84585800-84586600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:84605400-84605800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:84653800-84654000	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr12:84654000-84655000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr12:84655000-84655800	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr12:84658400-84658800	Enhancers	Fetal Brain Male	brain
34	chr12:84658800-84659200	Weak transcription	Fetal Brain Male	brain
35	chr12:84659200-84659800	Enhancers	Fetal Brain Male	brain
36	chr12:84662200-84664000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:84663800-84664200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
38	chr12:84663800-84664400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
39	chr12:84663800-84665200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
40	chr12:84664000-84664200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:84664000-84664400	Enhancers	NHEK	skin
42	chr12:84664000-84664600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
43	chr12:84664000-84665400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr12:84664200-84664400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
45	chr12:84664200-84664400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
46	chr12:84664200-84664800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr12:84664200-84664800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
48	chr12:84664200-84664800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr12:84664200-84665000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
50	chr12:84664200-84665000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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